Sall1

Summary

Gene Symbol: Sall1
Description: spalt-like transcription factor 1
Alias: sal-like protein 1, sal-like 1
Species: rat
Products:     Sall1

Top Publications

  1. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998;18:81-3 pubmed
    ..Cytogenetic findings suggested that the gene mutated in TBS maps to chromosome 16q12.1, where SALL1 (previously known as HSAL1), a human homologue of spalt (sal), is located...
  2. Yamamoto C, Fukuda N, Matsumoto T, Higuchi T, Ueno T, Matsumoto K. Zinc-finger transcriptional factor Sall1 induces angiogenesis by activation of the gene for VEGF-A. Hypertens Res. 2010;33:143-8 pubmed publisher
    Zinc-finger transcriptional factor Sall1 modulates gene expression and regulates organogenesis, including kidney development. Angiogenesis induced by vascular endothelial growth factor (VEGF) is also required for organogenesis...
  3. Böhm J, Buck A, Borozdin W, Mannan A, Matysiak Scholze U, Adham I, et al. Sall1, sall2, and sall4 are required for neural tube closure in mice. Am J Pathol. 2008;173:1455-63 pubmed publisher
    Four homologs to the Drosophila homeotic gene spalt (sal) exist in both humans and mice (SALL1 to SALL4/Sall1 to Sall4, respectively)...
  4. Kiefer S, McDill B, Yang J, Rauchman M. Murine Sall1 represses transcription by recruiting a histone deacetylase complex. J Biol Chem. 2002;277:14869-76 pubmed
    ..In this report, we show that a member of the Sal family, mouse Sall1, is a potent transcriptional repressor...
  5. Sato A, Kishida S, Tanaka T, Kikuchi A, Kodama T, Asashima M, et al. Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. Biochem Biophys Res Commun. 2004;319:103-13 pubmed
    ..Mutations of human SALL1 cause the autosomal dominant disorder, Townes-Brocks syndrome (TBS), and result in ear, limb, anal, renal, and ..
  6. Nishinakamura R, Osafune K. Essential roles of Sall family genes in kidney development. J Physiol Sci. 2006;56:131-6 pubmed
    We isolated a mouse Sall1, a mammalian homologue of the Drosophila region-specific homeotic gene spalt (sal), and found that mice deficient in Sall1 die in the perinatal period from kidney agenesis...
  7. Yamashita K, Sato A, Asashima M, Wang P, Nishinakamura R. Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains. Genes Cells. 2007;12:171-82 pubmed
    The Spalt (sal) gene family is conserved from Drosophila to humans. Mutations of human SALL1 cause Townes-Brocks syndrome, with features of ear, limb, anal, renal and heart anomalies...
  8. Netzer C, Bohlander S, Hinzke M, Chen Y, Kohlhase J. Defining the heterochromatin localization and repression domains of SALL1. Biochim Biophys Acta. 2006;1762:386-91 pubmed
    b>SALL1 has been identified as one of four human homologues of the Drosophila region-specific homeotic gene spalt (sal), encoding zinc finger proteins of characteristic structure. Mutations of SALL1 on chromosome 16q12...
  9. Sakaki Yumoto M, Kobayashi C, Sato A, Fujimura S, Matsumoto Y, Takasato M, et al. The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Development. 2006;133:3005-13 pubmed
    ..that anorectal and heart anomalies in Okihiro syndrome are caused by Sall4 haploinsufficiency and that Sall4/Sall1 heterozygotes exhibited an increased incidence of anorectal and heart anomalies, exencephaly and kidney agenesis...

More Information

Publications26

  1. Nishinakamura R, Matsumoto Y, Nakao K, Nakamura K, Sato A, Copeland N, et al. Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development. 2001;128:3105-15 pubmed
    b>SALL1 is a mammalian homolog of the Drosophila region-specific homeotic gene spalt (sal); heterozygous mutations in SALL1 in humans lead to Townes-Brocks syndrome...
  2. Lauberth S, Rauchman M. A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex. J Biol Chem. 2006;281:23922-31 pubmed
    b>Sall1 is a multi-zinc finger transcription factor that represses gene expression and regulates organogenesis. In this report, we further characterize the domain of Sall1 necessary for repression...
  3. Gnemmi V, Leteurtre E, Sudour Bonnange H, Devisme L, Guettier C, Buob D, et al. SALL4 is a marker of the embryonal subtype of hepatoblastoma. Histopathology. 2013;63:425-8 pubmed publisher
    ..Fetal and mesenchymal components were negative. SALL4 is expressed in blastemal tumours, particularly in the embryonal subtype of hepatoblastoma. Pathologists need to be aware of such expression so that misdiagnosis can be avoided. ..
  4. Harrison S, Parrish M, Monaghan A. Sall3 is required for the terminal maturation of olfactory glomerular interneurons. J Comp Neurol. 2008;507:1780-94 pubmed publisher
    ..Our data suggest that Sall3 is required for the terminal maturation of neurons destined for the glomerular layer. ..
  5. Harrison S, Nishinakamura R, Monaghan A. Sall1 regulates mitral cell development and olfactory nerve extension in the developing olfactory bulb. Cereb Cortex. 2008;18:1604-17 pubmed
    b>Sall1 is a zinc finger containing transcription factor that is highly expressed during mammalian embryogenesis. In humans, the developmental disorder Townes Brocks Syndrome is associated with mutations in the SALL1 gene...
  6. Liang Y, Shen D, Cai W. Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. J Pediatr Surg. 2008;43:391-3 pubmed publisher
    ..Mutations in SALL1, a gene mapping to chromosome 16q21.1, are responsible for TBS...
  7. Kiefer S, Robbins L, Barina A, Zhang Z, Rauchman M. SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. Hum Mutat. 2008;29:1133-40 pubmed publisher
    Mutations in SALL1 lead to the dominant multiorgan congenital anomalies that define Townes-Brocks syndrome (TBS)...
  8. Ma Y, Singer D, Gozman A, Ford D, Chai L, Steinhoff M, et al. Hsal 1 is related to kidney and gonad development and is expressed in Wilms tumor. Pediatr Nephrol. 2001;16:701-9 pubmed
    ..Furthermore, the Hsal 1 gene product may play a part in the pathogenesis of specific neoplasms occurring in these organs in addition to its specific role in Townes-Brocks syndrome. ..
  9. Kawakami Y, Uchiyama Y, Rodriguez Esteban C, Inenaga T, Koyano Nakagawa N, Kawakami H, et al. Sall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activities. Development. 2009;136:585-94 pubmed publisher
    ..b>Sall1/Sall3 double null mutants exhibit a loss of digit1 as well as a loss or fusion of digit2 and digit3, metacarpals ..
  10. Botzenhart E, Green A, Ilyina H, König R, Lowry R, Lo I, et al. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat. 2005;26:282 pubmed
    ..TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator SAL of Drosophila melanogaster...
  11. Sato A, Matsumoto Y, Koide U, Kataoka Y, Yoshida N, Yokota T, et al. Zinc finger protein sall2 is not essential for embryonic and kidney development. Mol Cell Biol. 2003;23:62-9 pubmed
    ..is a mammalian homolog of the Drosophila region-specific homeotic gene spalt (sal), and heterozygous mutations in SALL1 in humans lead to Townes-Brocks syndrome...
  12. Ma Y, Chai L, Cortez S, Stopa E, Steinhoff M, Ford D, et al. SALL1 expression in the human pituitary-adrenal/gonadal axis. J Endocrinol. 2002;173:437-48 pubmed
    b>SALL1 was originally identified on the basis of its DNA sequence homology to the region-specific homeotic gene Sal, in Drosophila melanogaster, which acts as a downstream target of hedgehog/tumor growth factor-beta-like decapentaplegic ..
  13. Surka W, Kohlhase J, Neunert C, Schneider D, Proud V. Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. Am J Med Genet. 2001;102:250-7 pubmed
    ..Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor...
  14. Kohlhase J. SALL1 mutations in Townes-Brocks syndrome and related disorders. Hum Mutat. 2000;16:460-6 pubmed
    ..TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator sal of Drosophila melanogaster...
  15. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri G, et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006;17:2864-70 pubmed
    ..cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome)...
  16. Uchiyama Y, Sakaguchi M, Terabayashi T, Inenaga T, Inoue S, Kobayashi C, et al. Kif26b, a kinesin family gene, regulates adhesion of the embryonic kidney mesenchyme. Proc Natl Acad Sci U S A. 2010;107:9240-5 pubmed publisher
    ..We previously demonstrated that the zinc finger protein Sall1 is essential for ureteric bud attraction toward the mesenchyme...
  17. Karantzali E, Lekakis V, Ioannou M, Hadjimichael C, Papamatheakis J, Kretsovali A. Sall1 regulates embryonic stem cell differentiation in association with nanog. J Biol Chem. 2011;286:1037-45 pubmed publisher
    b>Sall1 is a multi-zinc finger transcription factor that regulates kidney organogenesis. It is considered to be a transcriptional repressor, preferentially localized on heterochromatin...